Incidental Mutation 'IGL03095:Lin54'
| ID |
418529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lin54
|
| Ensembl Gene |
ENSMUSG00000035310 |
| Gene Name |
lin-54 DREAM MuvB core complex component |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL03095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100602337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 400
(V400E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046154]
[ENSMUST00000123572]
[ENSMUST00000137750]
[ENSMUST00000139234]
[ENSMUST00000144030]
[ENSMUST00000149714]
[ENSMUST00000152387]
[ENSMUST00000154921]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046154
AA Change: V400E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: V400E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
CXC
|
520 |
560 |
3.06e-15 |
SMART |
|
CXC
|
594 |
635 |
1.84e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123572
AA Change: V400E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: V400E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
CXC
|
520 |
560 |
3.06e-15 |
SMART |
|
CXC
|
594 |
635 |
1.84e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137750
AA Change: V179E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: V179E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139234
|
| SMART Domains |
Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144030
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149714
AA Change: V179E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: V179E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152387
AA Change: V311E
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: V311E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
330 |
N/A |
INTRINSIC |
|
CXC
|
431 |
471 |
3.06e-15 |
SMART |
|
CXC
|
505 |
546 |
1.84e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154921
AA Change: V179E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: V179E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,738,321 (GRCm39) |
D96E |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,794,265 (GRCm39) |
E632D |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
| Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,869,732 (GRCm39) |
S223P |
probably damaging |
Het |
| Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
| Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
| Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
| Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
| Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
| Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,785,410 (GRCm39) |
T156A |
probably benign |
Het |
| Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
| Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,629 (GRCm39) |
E480G |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
| Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
| Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
Het |
|
| Other mutations in Lin54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Lin54
|
APN |
5 |
100,633,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01356:Lin54
|
APN |
5 |
100,601,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02931:Lin54
|
APN |
5 |
100,628,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03089:Lin54
|
APN |
5 |
100,598,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Lin54
|
APN |
5 |
100,623,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0505:Lin54
|
UTSW |
5 |
100,600,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1138:Lin54
|
UTSW |
5 |
100,591,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1540:Lin54
|
UTSW |
5 |
100,628,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Lin54
|
UTSW |
5 |
100,633,108 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1991:Lin54
|
UTSW |
5 |
100,633,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2698:Lin54
|
UTSW |
5 |
100,628,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3738:Lin54
|
UTSW |
5 |
100,607,665 (GRCm39) |
splice site |
probably benign |
|
|
R4238:Lin54
|
UTSW |
5 |
100,623,603 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4424:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4529:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4530:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4531:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4532:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4533:Lin54
|
UTSW |
5 |
100,633,262 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4665:Lin54
|
UTSW |
5 |
100,600,943 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4784:Lin54
|
UTSW |
5 |
100,607,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4785:Lin54
|
UTSW |
5 |
100,607,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5252:Lin54
|
UTSW |
5 |
100,628,063 (GRCm39) |
missense |
probably benign |
|
|
R5265:Lin54
|
UTSW |
5 |
100,633,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Lin54
|
UTSW |
5 |
100,632,996 (GRCm39) |
splice site |
probably null |
|
|
R7150:Lin54
|
UTSW |
5 |
100,633,159 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7544:Lin54
|
UTSW |
5 |
100,633,129 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8165:Lin54
|
UTSW |
5 |
100,602,358 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8767:Lin54
|
UTSW |
5 |
100,600,884 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8940:Lin54
|
UTSW |
5 |
100,594,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Lin54
|
UTSW |
5 |
100,598,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Lin54
|
UTSW |
5 |
100,602,302 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0026:Lin54
|
UTSW |
5 |
100,598,858 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1189:Lin54
|
UTSW |
5 |
100,607,640 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation